Generation of two iPSC lines each carrying a stop codon mutation, c.366T > A (p.Y122X) and c.1657C > T (p.R553X), in the CFTR gene from the parental line PCIi033-A using CRISPR/Cas9

Abstract

Cystic fibrosis is a recessive genetic disease due to mutations in the CFTR gene. Approximately 80% of patients carry the CFTR-F508del mutation and may benefit from the triple therapy Kaftrio®. However, patients with other rare mutations that prevent the production of the CFTR protein, such as nonsense mutations, have no available treatments. With CRISPR/Cas tools, we generate two iPSC lines bearing stop-codon mutations (c.366T > A and c.1657C > T) in the commercialized iPSC PCIi033-A. Both cell lines retained the characteristics of iPSCs. Differentiation of those iPSCs into lung epithelia could be a promising strategy for studying CFTR defects and developing readthrough strategies.